Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome

Published:2000-01 Issue:1 Volume:45 Page:60-62
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Akagi Motohiro,Inui Koji,Nakajima Shigeo,Shima Masaaki,Nishigaki Toshinori,Muramatsu Takashi,Kokubu Chikara,Tsukamoto Hiroko,Sakai Norio,Okada Shintaro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200013.pdf

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Monogenic causation of pediatric nephrolithiasis;Frontiers in Urology;2022-12-27

2. Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia;Frontiers in Pediatrics;2022-06-09

3. Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia;International Journal of Molecular Sciences;2020-08-31

4. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant;Journal of Pediatric Endocrinology and Metabolism;2019-11-26

5. A fanconi-bickel syndrome patient with a novel mutation and accompanying situs inversus totalis;The Turkish Journal of Pediatrics;2017

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP